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June 1969

Tay-Sachs Disease: Demonstration of the Stored Ganglioside in Cultured Cells From Brain Biopsy

Author Affiliations

Los Angeles
From the Department of Surgery\Neurosurgery (Dr. Batzdorf), the Division of Pediatric Neurology (Mrs. Gold, Mr. Sarlieve, and Dr. Menkes), and the Brain Research Institute (Drs. Batzdorf and Menkes), UCLA School of Medicine, Los Angeles.

Arch Neurol. 1969;20(6):650-652. doi:10.1001/archneur.1969.00480120096009

TAY-SACHS disease (infantile amaurotic idiocy) is a neuronal storage disease inherited as a simple mendelian recessive trait and characterized by progressive mental deterioration and blindness. Large quantities of a ganglioside, a neuraminic acid containing macromolecular glycolipid, are stored in almost all cells of the central nervous system (CNS). Electronmicroscopic examination of involved neurons indicates that the lipid is arranged in concentric lamellae, termed membranous cytoplasmic bodies by Terry and Weiss.1 The lipid is also encountered in reactive astrocytes, in endothelial cells, and in pericytes, which are often present in large numbers in Tay-Sachs disease, and which may act as macrophages to remove lipid debris from ruptured neurons.1 Ganglioside-laden macrophages have also been seen to surround cerebral blood vessels and may be found in the leptomeninges.

Cells from patient afflicted with various neuronal storage diseases have recently been grown in vitro, and the abnormally stored material has been

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